Claudia Santoro

Claudia Santoro

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Claudia Santoro

Claudia Santoro

Publications by authors named "Claudia Santoro"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
January 2020

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Neurocase 2019 Feb - Apr;25(1-2):62-65. Epub 2019 Apr 16.

c Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre , "Federico II" University of Naples , Naples , Italy.

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http://dx.doi.org/10.1080/13554794.2019.1602144DOI Listing
December 2019

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α.

Clin Biochem 2019 Dec 4;74:80-85. Epub 2019 Sep 4.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120193085
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http://dx.doi.org/10.1016/j.clinbiochem.2019.09.002DOI Listing
December 2019

Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?

Minerva Pediatr 2019 Aug 5;71(4):391-393. Epub 2019 Apr 5.

Department of Medical and Translational Sciences, Child Neuropsychiatry, Federico II University, Naples, Italy.

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http://dx.doi.org/10.23736/S0026-4946.19.05309-XDOI Listing
August 2019

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Neurol Sci 2019 07 21;40(7):1475-1476. Epub 2019 Jan 21.

Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-019-3728-8DOI Listing
July 2019

Superimposed Blaschkoid lichen planus pigmentosus.

G Ital Dermatol Venereol 2019 Jun 17. Epub 2019 Jun 17.

Dermatology Unit, University of Campania Luigi Vanvitelli, Naples, Italy.

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http://dx.doi.org/10.23736/S0392-0488.19.06379-XDOI Listing
June 2019

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Epileptic Disord 2019 Jun;21(3):271-277

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genova.

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http://dx.doi.org/10.1684/epd.2019.1071DOI Listing
June 2019

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Am J Med Genet A 2018 Mar 28;176(3):722-726. Epub 2017 Dec 28.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38589DOI Listing
March 2018

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Ital J Pediatr 2018 Mar 22;44(1):41. Epub 2018 Mar 22.

Centro di Riferimento Pediatrico delle Neurofibromatosi, Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "L. Vanvitelli", Caserta, Italy.

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http://dx.doi.org/10.1186/s13052-018-0477-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863905PMC
March 2018

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

BMC Pediatr 2018 02 28;18(1):91. Epub 2018 Feb 28.

Department of Advanced Biomedical Sciences, "Federico II" University, via Sergio Pansini 5, 80100, Naples, Italy.

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http://dx.doi.org/10.1186/s12887-018-1067-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832195PMC
February 2018

From Gardner fibroma diagnosis to constitutional mutation detection: a one-way street.

Clin Case Rep 2017 10 10;5(10):1557-1560. Epub 2017 Aug 10.

Dipartimento della Donnadel Bambino e della Chirurgia generale e specialistica Università degli Studi della Campania Luigi Vanvitelli Naples Italy.

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http://dx.doi.org/10.1002/ccr3.1065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628198PMC
October 2017

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

BMC Cancer 2016 06 13;16:365. Epub 2016 Jun 13.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 4, Naples, 80138, Italy.

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http://dx.doi.org/10.1186/s12885-016-2402-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4904356PMC
June 2016

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Eur J Hum Genet 2015 Nov 13;23(11):1460-1. Epub 2015 May 13.

Dipartimento di Biochimica Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613473PMC
November 2015

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.

Eur J Endocrinol 2015 Apr;172(4):461-72

Dipartimento della Donnadel Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, via De Crecchio 4, Naples, ItalyIstituto Giannina GasliniUniversity of Genova, 16147 Genova, ItalyDepartment of BiochemistryBiophysics, and General Pathology, Second University of Naples, via De Crecchio 7, Naples, ItalyIstituto Giannina GasliniLargo Gerolamo Gaslini 5, 16147 Genova, ItalyUnit of Endocrinology and DiabetologyBambino Gesù Children's Hospital, IRCCS, Rome, ItalyPediatric Endocrinology UnitDepartment of Translational Medical Sciences, University 'Federico II' of Naples, Naples, ItalyDivision of Internal MedicineSecond University of Naples, 80100 Naples, Italy

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https://eje.bioscientifica.com/view/journals/eje/172/4/461.x
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http://dx.doi.org/10.1530/EJE-14-0942DOI Listing
April 2015

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

BMC Med Genet 2014 Apr 26;15:44. Epub 2014 Apr 26.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, Via Luigi De Crecchio, 4, Naples 80138, Italy.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-15-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005403PMC
April 2014